The appearance of the vagina was evaluated on magnetic resonance (MR) images of 65 subjects who were healthy or had disease unrelated to the vagina and 24 patients with suspected congenital anomalies of the vagina. MR imaging accurately demonstrated the presence of (n = 78) or complete (n = 7) or partial (n = 4) absence of the vagina in each case. Partial (n = 2) or complete (n = 2) duplication of the vagina was also correctly diagnosed. Regardless of field strength, T2-predominant images were essential for evaluation. The transverse plane was optimal, and a 5-mm section thickness was preferable. Estrogen stimulation affected the appearance of the vagina: The contrast between the vaginal wall and the central mucus-containing area was greatest during the early proliferative and late secretory phases. MR imaging offers unique depiction of congenital anomalies and should be used when results of physical examination or other radiologic studies, such as ultrasound, are inconclusive.
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http://dx.doi.org/10.1148/radiology.169.1.3420255 | DOI Listing |
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFSpec Care Dentist
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil.
Aims: Kallmann syndrome (KS) is a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism and varied clinical features. Despite its recognition, the oral and maxillofacial manifestations remain poorly understood. This study synthesized clinical aspects and management of KS-related oral and maxillofacial alterations.
View Article and Find Full Text PDFJ Clin Invest
January 2025
Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Peking University; State Key Laboratory of Vascular Homeostasis and Remodeling, Peking University, Beijing, China.
The pathogenesis of thoracic aortic aneurysm (TAA) in Marfan syndrome (MFS) is generally attributed to vascular smooth muscle cell (VSMC) pathologies. However, the role of immune cell-mediated inflammation remains elusive. Single-cell RNA sequencing identified a subset of CX3CR1+ macrophages mainly located in the intima in the aortic roots and ascending aortas of Fbn1C1041G/+ mice, further validated in MFS patients.
View Article and Find Full Text PDFJ Int Med Res
January 2025
Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Objective: To evaluate whether there is an association between maternal mental health, purchase of psychotropic drugs, socioeconomic status and major congenital anomalies in offspring.
Methods: A register-based cohort study of 6189 Finnish primiparous women who had a singleton delivery between 2009 and 2015. Data on pregnancy and delivery outcomes, psychiatric diagnosis, prescription drug purchases and offspring congenital anomalies were obtained from Finnish national registers.
Am J Case Rep
December 2024
Department of Otolaryngology, Military Institute of Aviation Medicine, Warsaw, Poland.
BACKGROUND The thyroglossal duct cyst, which develops from the midline migratory tract between the foramen cecum and the anatomic location of the thyroid, is the most prevalent congenital abnormality of the neck, accounting for about 70% of all cervical neck masses in children and 7% in adults. Only up to 1% of these abnormalities contain malignant thyroid tissue, with 90% of those cases being papillary thyroid carcinoma. Thyroglossal duct cyst is rarely linked to carcinoma.
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